Detalhe da pesquisa
1.
Contact-dependent signaling triggers tumor-like proliferation of CCM3 knockout endothelial cells in co-culture with wild-type cells.
Cell Mol Life Sci
; 79(6): 340, 2022 Jun 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35661927
2.
Endothelial Differentiation of CCM1 Knockout iPSCs Triggers the Establishment of a Specific Gene Expression Signature.
Int J Mol Sci
; 24(4)2023 Feb 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36835400
3.
Long-term outcome and quality of life after CNS cavernoma resection: eloquent vs. non-eloquent areas.
Neurosurg Rev
; 45(1): 649-660, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34164745
4.
Cas9-Mediated Nanopore Sequencing Enables Precise Characterization of Structural Variants in CCM Genes.
Int J Mol Sci
; 23(24)2022 Dec 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36555281
5.
Fibronectin rescues aberrant phenotype of endothelial cells lacking either CCM1, CCM2 or CCM3.
FASEB J
; 34(7): 9018-9033, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32515053
6.
Postzygotic mosaicism in cerebral cavernous malformation.
J Med Genet
; 57(3): 212-216, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31446422
7.
Biallelic CCM3 mutations cause a clonogenic survival advantage and endothelial cell stiffening.
J Cell Mol Med
; 23(3): 1771-1783, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30549232
8.
Identification of pathogenic YY1AP1 splice variants in siblings with Grange syndrome by whole exome sequencing.
Am J Med Genet A
; 179(2): 295-299, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30556293
9.
CCM1/KRIT1 mutation in monozygotic twins of a polyzygotic triplet birth: genetic, clinical and radiological characteristics.
Neurosurg Rev
; 42(3): 765-768, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-31172378
10.
BOD1 Is Required for Cognitive Function in Humans and Drosophila.
PLoS Genet
; 12(5): e1006022, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27166630
11.
First large genomic inversion in familial cerebral cavernous malformation identified by whole genome sequencing.
Neurogenetics
; 19(1): 55-59, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29197946
12.
Predictive value of EFHC1 variants for the long-term seizure outcome in juvenile myoclonic epilepsy.
Epilepsy Behav
; 44: 61-6, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25625532
13.
Predictive genetic testing of at-risk relatives requires analysis of all CCM genes after identification of an unclassified CCM1 variant in an individual affected with cerebral cavernous malformations.
Neurosurg Rev
; 37(1): 161-5, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23722637
14.
Aggregates of nonmuscular myosin IIA in erythrocytes associate with GATA1- and GFI1B-related thrombocytopenia.
J Thromb Haemost
; 22(4): 1179-1186, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38103735
15.
Loss of CCM3 impairs DLL4-Notch signalling: implication in endothelial angiogenesis and in inherited cerebral cavernous malformations.
J Cell Mol Med
; 17(3): 407-18, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23388056
16.
Cerebral cavernous malformation protein CCM1 inhibits sprouting angiogenesis by activating DELTA-NOTCH signaling.
Proc Natl Acad Sci U S A
; 107(28): 12640-5, 2010 Jul 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-20616044
17.
Spacer-Supported Thermal Ablation to Prevent Carbonisation and Improve Ablation Size: A Proof of Concept Study.
Biomedicines
; 11(2)2023 Feb 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36831111
18.
Quantitative Diffusion-Weighted MRI of Neuroblastoma.
Cancers (Basel)
; 15(7)2023 Mar 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37046600
19.
Hereditary Breast and Ovarian Cancer Service in Sparsely Populated Western Pomerania.
Healthcare (Basel)
; 10(10)2022 Oct 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36292468
20.
Using CRISPR/Cas9 genome editing in human iPSCs for deciphering the pathogenicity of a novel CCM1 transcription start site deletion.
Front Mol Biosci
; 9: 953048, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36090026